{"title":"Lipodystrophy and severe insulin resistance syndrome: Epidemiological data from a French national rare diseases registry","authors":"Marie-Christine Vantyghem , Estelle Nobécourt , Camille Vatier , Elise Bismuth , Clémence Deshuille , Nabila Elarouci , French Lipodystrophy Reference Network , Anne-Sophie Jannot , Brigitte Delemer , Corinne Vigouroux","doi":"10.1016/j.ando.2025.101730","DOIUrl":null,"url":null,"abstract":"<div><h3>Context</h3><div>Lipodystrophy and extreme insulin resistance syndrome are rare diseases with severe metabolic complications. Reported epidemiological data are conflicting.</div></div><div><h3>Objective</h3><div>We aimed to evaluate nationwide and regional prevalences of lipodystrophy and insulin resistance syndrome in France, and to study diagnostic and care-pathways.</div></div><div><h3>Methods</h3><div>We studied data from the French National Rare Disease Registry (BNDMR), which includes all patients attending rare disease reference centers in France. We analyzed demographic data and age at first signs and at diagnosis in patients with an ORPHA code of lipodystrophy or severe insulin resistance syndrome.</div></div><div><h3>Results</h3><div>The number of patients registered with lipodystrophy/insulin resistance syndrome doubled from 2017 to 2023, with the deployment of nationwide epidemiological tools in specialized rare diseases centers. Currently, 567 of the 652 patients (58% female) had a diagnosis of genetically determined disease with generalized (GL) or partial lipodystrophy (PL), giving an estimated national prevalence of 1.6 and 6.4 per million, respectively. Wide regional differences in estimated prevalence may be partly due to founder pathogenic variants, or local spread of clinical skills and knowledge. Median age at first signs and diagnosis were respectively 1 [IQR: 1–3] and 5 years [0–20] for GL, and 22 [14–35] and 40 years [25–52] for PL, with earlier first signs of PL in women than in men.</div></div><div><h3>Conclusion</h3><div>The estimated prevalence of genetic lipodystrophy/extreme insulin resistance syndrome has increases with the use of dedicated epidemiological tools, suggesting persistent underdiagnosis. Knowledge of these diseases needs to be improved to decrease diagnostic delay and reduce regional and gender-associated diagnostic disparities.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 4","pages":"Article 101730"},"PeriodicalIF":2.9000,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annales d'endocrinologie","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0003426625000496","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0
Abstract
Context
Lipodystrophy and extreme insulin resistance syndrome are rare diseases with severe metabolic complications. Reported epidemiological data are conflicting.
Objective
We aimed to evaluate nationwide and regional prevalences of lipodystrophy and insulin resistance syndrome in France, and to study diagnostic and care-pathways.
Methods
We studied data from the French National Rare Disease Registry (BNDMR), which includes all patients attending rare disease reference centers in France. We analyzed demographic data and age at first signs and at diagnosis in patients with an ORPHA code of lipodystrophy or severe insulin resistance syndrome.
Results
The number of patients registered with lipodystrophy/insulin resistance syndrome doubled from 2017 to 2023, with the deployment of nationwide epidemiological tools in specialized rare diseases centers. Currently, 567 of the 652 patients (58% female) had a diagnosis of genetically determined disease with generalized (GL) or partial lipodystrophy (PL), giving an estimated national prevalence of 1.6 and 6.4 per million, respectively. Wide regional differences in estimated prevalence may be partly due to founder pathogenic variants, or local spread of clinical skills and knowledge. Median age at first signs and diagnosis were respectively 1 [IQR: 1–3] and 5 years [0–20] for GL, and 22 [14–35] and 40 years [25–52] for PL, with earlier first signs of PL in women than in men.
Conclusion
The estimated prevalence of genetic lipodystrophy/extreme insulin resistance syndrome has increases with the use of dedicated epidemiological tools, suggesting persistent underdiagnosis. Knowledge of these diseases needs to be improved to decrease diagnostic delay and reduce regional and gender-associated diagnostic disparities.
期刊介绍:
The Annales d''Endocrinologie, mouthpiece of the French Society of Endocrinology (SFE), publishes reviews, articles and case reports coming from clinical, therapeutic and fundamental research in endocrinology and metabolic diseases. Every year, it carries a position paper by a work-group of French-language endocrinologists, on an endocrine pathology chosen by the Society''s Scientific Committee. The journal is also the organ of the Society''s annual Congress, publishing a summary of the symposia, presentations and posters. "Les Must de l''Endocrinologie" is a special booklet brought out for the Congress, with summary articles that are always very well received. And finally, we publish the high-level instructional courses delivered during the Henri-Pierre Klotz International Endocrinology Days. The Annales is a window on the world, keeping alert clinicians up to date on what is going on in diagnosis and treatment in all the areas of our specialty.